Reviewed,
UniProtKB/Swiss-Prot Q9H6U6 (BCAS3_HUMAN)
Last modified
June 16, 2009.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Breast carcinoma-amplified sequence 3 Alternative name(s): Maab1 protein GAOB1 | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 928 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | Nucleus Potential. |
| Tissue specificity | Stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leucocyte and mammary epithelial cells. Overexpressed in most breast cancer cell lines. Ref.1 |
| Developmental stage | Fetal. |
| Involvement in disease | A chromosomal aberration involving BCAS3 may be a cause of breast cancer. Translocation t(17;20)(q23;q13) with BCAS4. |
| Sequence similarities | Belongs to the WD repeat BCAS3 family. Contains 3 WD repeats. |
| Sequence caution | The sequence AAF70324.1 differs from that shown. Reason: Frameshift at position 693. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| Domain | Repeat WD repeat |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 2 (identifier: Q9H6U6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 1 (identifier: Q9H6U6-2) The sequence of this isoform differs from the canonical sequence as follows: 547-561: Missing. | ||||||
| Isoform 3 (identifier: Q9H6U6-3) The sequence of this isoform differs from the canonical sequence as follows: 547-561: Missing. 879-879: T → TDTALDVAVKTFPPERHVAVKCF | ||||||
| Isoform 4 (identifier: Q9H6U6-4) The sequence of this isoform differs from the canonical sequence as follows: 546-546: G → GPYLFGAGCFSIKAPC 879-879: T → TDTALDVAVKTFPPERHVAVKCF | ||||||
| Isoform 5 (identifier: Q9H6U6-5) The sequence of this isoform differs from the canonical sequence as follows: 1-829: Missing. 830-879: VTLLEVCGSW...PSRDVVGSGT → ALDVAVKTFP...VTKHAFGMEE | ||||||
| Note: Incomplete sequence. No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 928 | 928 | Breast carcinoma-amplified sequence 3 | PRO_0000050883 | |||||
Regions | |||||||||
| Repeat | 69 – 114 | 46 | WD 1 | ||||||
| Repeat | 349 – 389 | 41 | WD 2 | ||||||
| Repeat | 403 – 447 | 45 | WD 3 | ||||||
Sites | |||||||||
| Site | 824 – 825 | 2 | Breakpoint for translocation to form BCAS4-BCAS3 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 480 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 488 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 869 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 886 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 829 | 829 | Missing in isoform 5. | VSP_007856 | |||||
| Alternative sequence | 546 | 1 | G → GPYLFGAGCFSIKAPC in isoform 4. | VSP_007857 | |||||
| Alternative sequence | 547 – 561 | 15 | Missing in isoform 1 and isoform 3. | VSP_007858 | |||||
| Alternative sequence | 830 – 879 | 50 | VTLLE…VGSGT → ALDVAVKTFPPERHVAVKCF GKKKGKKNNANSPASVSNPT VTKHAFGMEE in isoform 5. | VSP_007859 | |||||
| Alternative sequence | 879 | 1 | T → TDTALDVAVKTFPPERHVAV KCF in isoform 3 and isoform 4. | VSP_007860 | |||||
| Natural variant | 106 | 1 | I → V: dbSNP rs34712615. | VAR_057583 | |||||
Experimental info | |||||||||
| Sequence conflict | 29 | 1 | K → E in BAB15156. Ref.2 | ||||||
| Sequence conflict | 127 | 1 | K → R in BAB15156. Ref.2 | ||||||
| Sequence conflict | 199 – 200 | 2 | VV → II in BAB15156. Ref.2 | ||||||
| Sequence conflict | 533 | 1 | K → E in BAB14380. Ref.2 | ||||||
| Sequence conflict | 640 | 1 | D → G in BAB15156. Ref.2 | ||||||
| Sequence conflict | 666 | 1 | Q → R in BAB14078. Ref.2 | ||||||
| Sequence conflict | 806 | 1 | S → P in BAB15156. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer." Baerlund M., Monni O., Weaver J.D., Kauraniemi P., Sauter G., Heiskanen M., Kallioniemi O.-P., Kallioniemi A. Genes Chromosomes Cancer 35:311-317(2002) [PubMed: 12378525] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH BCAS4. Tissue: Liver. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Colon. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 475-928 (ISOFORM 4). Tissue: Brain. |
| [4] | "Five novel genes from 17q23 amplicon have different amplification and overexpression frequency in breast cancer." Wu G., Couch F.J. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 510-928 (ISOFORM 1). |
| [5] | "Cloning and sequencing of a new isoform similar to FLJ20128." Bauer M. Thesis (2002), University of Leipzig, Germany Cited for: PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM 5). |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 469-928 (ISOFORM 1). Tissue: Cervix. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-480 AND SER-488, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF361219 mRNA. Translation: AAL99632.1. AF361221 mRNA. Translation: AAL99634.1. Different initiation. AK000135 mRNA. Translation: BAA90966.1. Different initiation. AK022526 mRNA. Translation: BAB14078.1. Sequence problems. AK023054 mRNA. Translation: BAB14380.1. Different initiation. AK025510 mRNA. Translation: BAB15156.1. AL831895 mRNA. Translation: CAD38568.1. AF260268 mRNA. Translation: AAF70324.1. Frameshift. AJ511332 mRNA. Translation: CAD54076.1. BC001250 mRNA. Translation: AAH01250.1. Different initiation. | |
| IPI | IPI00332095. IPI00332097. IPI00332098. IPI00411606. IPI00783452. |
| UniGene | Hs.655028 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q9H6U6. |
Proteomic databases | |
| PRIDE | Q9H6U6. |
Genome annotation databases | |
| Ensembl | ENSG00000141376. Homo sapiens. [Contig view] |
Organism-specific databases | |
| GeneCards | GC17P056109. |
| H-InvDB | HIX0021877. |
| HGNC | HGNC:14347. BCAS3. |
| MIM | 607470. gene. |
| PharmGKB | PA25286. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9H6U6. |
Gene expression databases | |
| Bgee | Q9H6U6. |
| GermOnline | ENSG00000141376. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. [Graphical view] |
| SMART | SM00320. WD40. 2 hits. [Graphical view] |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | BCAS3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H6U6 Secondary accession number(s): Q8IXI6 Q9NXP4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


